Woman’s labored breathing was not caused by allergy, smoking or poor air quality

To Jean McCathern, it seemed that the barrage of allergies — to pollen, mold, dust mites and cats — arose out of nowhere. In 1980 McCathern, then a 24-year-old Air Force staff sergeant assigned to the National Emergency Airborne Command Post at Offutt Air Force Base near Omaha, began gasping for breath as she carried equipment onto an aircraft.

Although McCathern had been in excellent physical condition, a doctor informed her a few weeks later that she had allergies and asthma, a diagnosis that remained unchanged for the next 24 years, even as her lung problems grew steadily worse.

McCathern’s infirmities would cost her the career as a cryptographic repairman that she loved, lead her to part with her beloved cat and force her to give up one of her passions — attending hockey games — because the risk of illness from exposure to crowds was too great. It wasn’t until 2004 that a simple blood test identified the malady that had plagued her for more than two decades — and it wasn’t asthma or allergies.

“It was a pretty big shock,” said McCathern, soon to be 56, who lives near Harrisburg, Pa. Knowing earlier what was wrong, she added, “might have made a difference with what I did with my life.”

Coughing up ‘black stuff’

After her first allergist prescribed allergy shots, which didn’t help much, McCathern assumed that her intermittent respiratory problems were something she just had to get used to.

In 1982, McCathern was deployed to Ankara, Turkey, where her health worsened. That was not surprising, since Turkey burned coal as a fuel source and many people were affected by air pollution. “In the winter, you’d cough up this black stuff,” she recalled.

Doctors prescribed prednisone, a corticosteroid that reduces inflammation; it seemed to help. She continued to get allergy shots.

In 1983, when she left Turkey for a Royal Air Force base near Cambridge, England, her health improved. Doctors there decided her problem was mostly seasonal allergies — pollen again — but she remembers that “it wasn’t something I had to worry about every day.” The good days outnumbered the bad in England and at her next assignment in Southern California.

By the mid-’90s, when she was deployed to Cheyenne, Wyo., her asthma had worsened significantly. “Doctors told me I had to get rid of my cat or I wouldn’t be able to walk up the stairs when I was 40,” she recalled. Her allergist rebuffed her request for a methacholine challenge, a test used to help manage hard-to-control asthma or to rule out an asthma diagnosis. McCathern said the allergist told her the test was unnecessary because her diagnosis was not in doubt.

Because parting with her cat now seemed a necessity, McCathern sadly gave her to her sister. Even so, her condition did not improve.

From 1995 to 2002, McCathern lived in suburban Maryland and was attached to the presidential support unit at Andrews Air Force Base. Although catless, she suffered more-frequent and more-severe respiratory infections, and her allergist seemed at a loss. Too sick to take another overseas assignment — the Air Force wanted to send her back to Turkey — she retired on medical grounds after 25 years of service. It was a very difficult time, McCathern recalled, because she loved her job and wanted to continue working, but it was clear that her health had become too precarious.

Largely because she had grown to loathe Washington traffic, McCathern decided to move back to central Pennsylvania, where she had been raised; she got an IT job with the state’s Transportation Department. But by 2003, she was battling pneumonia. Her new allergist, confounded by his inability to control her asthma and her repeated lung and sinus infections, prescribed more drugs. “I was sick all the time and couldn’t go six weeks without getting something,” she recalled.

“The guy across the cubicle kept saying, ‘You need to see my wife’s pulmonologist,’ but I ignored him,” she said. In January 2004, she broke down and made an appointment.

Surprising test results

At her first visit, the pulmonologist ordered a blood test for a genetic disorder, just in case. “I really don’t think you have this,” she recalls him saying, “and you really don’t want to have it.” McCathern, who was contending with another bout of pneumonia, gave it little thought, returning a few weeks later for a follow-up appointment.

She remembers that the doctor first glanced at her test result, then did a double take before telling McCathern that it was positive. He ordered it repeated, along with an additional test. Several weeks later, the results were in and they were definitive, upending a quarter-century of repeated misdiagnosis.

McCathern had an inherited disorder called alpha-1 antitrypsin deficiency, which can cause disabling and progressive lung and liver disease. She also learned that she had the most serious type — ZZ — which results from the inheritance of two damaged genes, one from each parent. She had never had asthma.

“Everything stopped,” McCathern recalled. The pulmonologist told her she would need weekly infusions of an intravenous drug and, most likely, a lung transplant by the time she was 62. Her mother, a nurse, was appalled by the diagnosis and, McCathern said, initially called the doctor “a quack. I’d say she was in denial. It was a pretty big shock.”

McCathern herself was“pretty upset.” She wondered why the many doctors she had seen over the years had never thought to test her for the disorder.

First described in 1963, the condition is among the most common inherited disorders affecting Caucasians, usually those of Northern European descent, and is caused by the deficiency of a protein made in the liver that allows the lungs to function properly. About one in 2,500 Americans isbelieved to be affected, according to the National Human Genome Research Institute. Those who inherit one normal and one damaged gene are considered carriers and may live healthy lives, particularly if they do not smoke. Among the 100,000 Americans with the most severe form, studies have estimated that only about 6 percent know they have the condition.

Although infants can show symptoms, most “alphas” develop initial signs of the disease, often shortness of breath, between ages 20 and 50. There is no cure; treatment involves weekly infusions of intravenous medications including Prolastin, which replaces the missing protein. Some patients require lung transplants; others develop liver cancer or may need liver transplants.

“Most doctors don’t even think about the diagnosis, unfortunately,” said allergist Timothy Craig, a professor of medicine and pediatrics at the Penn State Hershey Medical Center in Hershey, Pa., who has treated McCathern for the past five years. “That’s unfortunate, because the test is really easy.” Many physicians assume that a patient with breathing problems is suffering from asthma or chronic obstructive pulmonary disease, particularly if he or she smokes. McCathern says she never did.

“Early diagnosis can make a big difference in the outcome,” Craig said. “If you’re an alpha and you smoke, your chances of having serious lung disease vastly increase.”

Craig notes that medical guidelines recommend that people with an asthma diagnosis who are not responding to treatment should be tested for alpha-1 deficiency. A methocholine challenge, the test McCathern sought in the mid-1990s, would probably have accelerated the diagnosis because it would have revealed that she did not have asthma.

By the time McCathern received her diagnosis, she was battling emphysema and bronchiectasis, a condition that results from injury to the airways and impedes the ability to clear mucus. “Her lung disease is advanced,” Craig observed, “but not to the point that she can’t carry on a normal life.”

McCathern began receiving weekly infusions of Prolastin almost immediately. Close relatives, including her daughter, were tested; some were found to have inherited one damaged gene, but, she said, “I’m the only one that has both.”

For several years, McCathern has participated in studies of the disease. As a coordinator for AlphaNet, a national support group, she speaks with other patients, many of them new to the diagnosis.

McCathern says she wishes she had known what was wrong much earlier, because treatment could have blunted the severity of her illness. “I could have been on medication in 1988, not 2004,” she said.“Just knowing that you have it, and taking the medication, can really make a difference.”

But McCathern remains philosophical, because earlier diagnosis would have ended her satisfying military career sooner. “I did have all those years,” she said, “and that was kind of nice, too.”

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